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1,003 Possible Causes for Pallister-Hall Syndrome

  • Pallister-Hall Syndrome

    Polydactyly PALLISTER-HALL SYNDROME Ano-cerebro-digital Syndrome Pallister Hall syndrome PHS PALLISTER-HALL SYNDROME; PHS Hypothalamic hamartoblastoma syndrome A syndrome[wikidata.org] PallisterHall syndrome at NLM Genetics Home Reference GeneReviews/NCBI/NIH/UW entry on PallisterHall Syndrome Genetics Home Reference[en.wikipedia.org] Pallister-Hall syndrome, firstly described 40 years ago, is an extremely rare genetic disorder.[symptoma.com]

  • Hypothalamic Hamartoma

    We describe a unique patient in whom magnetic resonance imaging of the fetal brain allowed a prenatal diagnosis of Pallister-Hall syndrome.[ncbi.nlm.nih.gov] Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies[ncbi.nlm.nih.gov] We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile spasms without hypsarrhythmia. [(18)F]fluoro-deoxyglucose positron emission[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    Overview What is Pallister-Hall syndrome? Pallister-Hall syndrome is an inherited condition that can affect different parts of the body.[thinkgenetic.com] Diagnosis - Pallister-Hall syndrome Both clinical examination and family history are used to diagnose Pallister-Hall syndrome.[checkorphan.org] Mutations in the GLI3 gene cause PallisterHall syndrome.[en.wikipedia.org]

  • Laryngo-Tracheo-Esophageal Cleft

    The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome.[ncbi.nlm.nih.gov] The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome (see these terms).[orpha.net] G-syndrome and Pallister Hall Syndrome, may be associated with LTEC (10).[pediatriconcall.com]

  • Curry Hall Syndrome

    PMID 16531732 Gonadal mosaicism in severe Pallister-Hall syndrome.[atlasgeneticsoncology.org] Mutations in the GLI3 gene cause Pallister-Hall syndrome .[ghr.nlm.nih.gov] Mutations in the GLI3 gene cause PallisterHall syndrome.[en.wikipedia.org]

  • Hamartoma

    Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3.[ncbi.nlm.nih.gov] Causes Sporadic (95%) Pallister-Hall syndrome (5%) PALLISTER HALL SYNDROME This syndrome includes polydactyly, a bifid epiglottis, dysplastic nails, imperforate anus, kidney[epilepsydiagnosis.org] Pallister-Hall syndrome, for example, is a genetic condition that can present with deformities of the hands and feet and other anatomical anomalies, including hypothalamic[chop.edu]

  • Central Polydactyly of Toes

    There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly.[thinkgenetic.com] 2 oral-facial-digital syndromes oral-facial-digital syndrome (OFDS) type II - Mohr syndrome : post-axial oral-facial-digital syndrome (OFDS) type VI : post-axial 4 Pallister-Hall[radiopaedia.org] , Joubert-Boltshauser syndrome, Laurin-Sandrow syndrome, McKusick-Kaufman syndrome, mirror hand deformity (ulnar dimelia), Mohr syndrome, oral-facial-digital syndrome, Pallister-Hall[clinicaladvisor.com]

  • Central Polydactyly of Fingers

    There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly .[thinkgenetic.com] GLI3 related disorders - Greig cephalopolysyndactyly syndrome ( GCPS ; MIM 175700), Pallister-Hall syndrome ( PHS : MIM 146510), polydactyly, postaxial, type A1 ( PAPA1 ;[ctgt.net] 2 oral-facial-digital syndromes oral-facial-digital syndrome (OFDS) type II - Mohr syndrome : post-axial oral-facial-digital syndrome (OFDS) type VI : post-axial 4 Pallister-Hall[radiopaedia.org]

  • Imperforate Anus

    Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis.[ncbi.nlm.nih.gov] Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and[ncbi.nlm.nih.gov] syndrome, McKusick–Kaufman syndrome, PallisterHall syndrome, short rib–polydactyly syndrome type 1, Townes–Brocks syndrome, 13q deletion syndrome, urorectal septum malformation[en.wikipedia.org]

  • Polydactyly

    These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital[ncbi.nlm.nih.gov] 91% of patients with Pallister-Hall syndrome.[ncbi.nlm.nih.gov] The differential diagnostic list of disorders causing hexadactyly includes a number of conditions including Pallister-Hall syndrome and Greig syndrome Hexadactyly is the most[medicinenet.com]

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